A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455684



Internal ID15515749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:90730778..90793554hg38UCSC Ensembl
Innerchr12:91124555..91187331hg19UCSC Ensembl
Innerchr12:89648686..89711462hg18UCSC Ensembl
Innerchr12:89627023..89689799hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3862777
hg1962777
hg1862777
hg1762777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533192
SamplesHGDP01191
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv455684
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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